The Barth Syndrome Registry and Repository (BRR) stores information about individuals affected with Barth syndrome. Affected individuals or their family members can register for the BRR, consent to participate, and provide the following information on the affected individual: genetic test results, demographic information, biological samples, and responses to a battery of survey assessments (clinical information on various symptoms, quality of life, medical procedures, and family history).

The goal of the BRR is to build the natural history data on the disease and further the understanding of Barth syndrome via self- and parent/caregiver-reported input.

If you would like to help us better understand the natural history of the disease and contribute your unique Barth syndrome experience, please consider enrolling.

IMPORTANT UPDATE: Starting May 1, the Barth Syndrome Registry & Repository will be temporarily unavailable as we begin the migration to a new and improved platform. We’re partnering with Matrix by Across Healthcare to bring you an enhanced experience. Stay tuned for when we launch in Summer 2025. Thank you for your patience and support during this transition! For questions, reach out to Melissa Huang (melissa.huang@barthsyndrome.org).

Why join the BRR?

Joining the BRR is easy. It takes only a few minutes to register your account. 

In addition to making your voice and story heard, registrants can also obtain:

GUID

Once you are enrolled in the registry and your information is confirmed, you can obtain a Research GUID ID card. This is your unique ID that will allow you to maximize your contributions to Barth syndrome science by allowing researchers to share your data amongst the scientific community, all while protecting your privacy.